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    KIT KIT proto-oncogene receptor tyrosine kinase [ Homo sapiens (human) ]

    Gene ID: 3815, updated on 6-Dec-2016
    Official Symbol
    KITprovided by HGNC
    Official Full Name
    KIT proto-oncogene receptor tyrosine kinaseprovided by HGNC
    Primary source
    HGNC:HGNC:6342
    See related
    Ensembl:ENSG00000157404 MIM:164920; Vega:OTTHUMG00000128713
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    PBT; SCFR; C-Kit; CD117
    Summary
    This gene encodes the human homolog of the proto-oncogene c-kit. C-kit was first identified as the cellular homolog of the feline sarcoma viral oncogene v-kit. This protein is a type 3 transmembrane receptor for MGF (mast cell growth factor, also known as stem cell factor). Mutations in this gene are associated with gastrointestinal stromal tumors, mast cell disease, acute myelogenous lukemia, and piebaldism. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]
    Orthologs
    Location:
    4q12
    Exon count:
    21
    Annotation release Status Assembly Chr Location
    108 current GRCh38.p7 (GCF_000001405.33) 4 NC_000004.12 (54657928..54740715)
    105 previous assembly GRCh37.p13 (GCF_000001405.25) 4 NC_000004.11 (55524095..55606881)

    Chromosome 4 - NC_000004.12Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC105377656 Neighboring gene uncharacterized LOC339978 Neighboring gene uncharacterized LOC105377657 Neighboring gene uncharacterized LOC107986226

    GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

    Associated conditions

    Description Tests
    Gastrointestinal stromal tumor
    MedGen: C0238198 OMIM: 606764 GeneReviews: Not available
    Compare labs
    Malignant tumor of testis
    MedGen: C0153594 OMIM: 273300 GeneReviews: Not available
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    Mastocytosis
    MedGen: C0024899 OMIM: 154800 GeneReviews: Not available
    Compare labs
    Partial albinism
    MedGen: C0080024 OMIM: 172800 GeneReviews: Not available
    Compare labs

    NHGRI GWAS Catalog

    Description
    Genome-wide association and meta-analysis of bipolar disorder in individuals of European ancestry.
    NHGRI GWA Catalog
    Genome-wide association study of hematological and biochemical traits in a Japanese population.
    NHGRI GWA Catalog
    Identification of a variant in KDR associated with serum VEGFR2 and pharmacodynamics of pazopanib.
    NHGRI GWA Catalog
    Multiple loci influence erythrocyte phenotypes in the CHARGE Consortium.
    NHGRI GWA Catalog
    Seventy-five genetic loci influencing the human red blood cell.
    NHGRI GWA Catalog

    Protein interactions

    Protein Gene Interaction Pubs
    Nef nef The mechanism of HIV-1 induced apoptosis in astrocytes involves the upregulation of the receptor tyrosine kinase protooncogene c-Kit by the HIV-1 Nef protein PubMed
    Tat tat HIV-1 Tat downregulates the expression of v-kit Hardy-Zuckerman 4 feline sarcoma viral oncogene homolog (KIT; CD117) in human primary T cells PubMed

    Go to the HIV-1, Human Interaction Database

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    • Signaling events mediated by Stem cell factor receptor (c-Kit), organism-specific biosystem (from Pathway Interaction Database)
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      Signaling events mediated by Stem cell factor receptor (c-Kit)
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    • Signalling to ERKs, organism-specific biosystem (from REACTOME)
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    • Signalling to RAS, organism-specific biosystem (from REACTOME)
      Signalling to RAS, organism-specific biosystemSignalling through Shc adaptor proteins appears to be identical for both NGF and EGF. It leads to a fast, but transient, MAPK/ERK activation, which is insufficient to explain the prolonged activation...
    • Signalling to p38 via RIT and RIN, organism-specific biosystem (from REACTOME)
      Signalling to p38 via RIT and RIN, organism-specific biosystemRIT and RIN are two small guanine nucleotide binding proteins that share more than 50% sequence identity with RAS, including highly conserved core effector domains. Unlike RAS, the C termini of RIT a...
    • TFAP2 (AP-2) family regulates transcription of growth factors and their receptors, organism-specific biosystem (from REACTOME)
      TFAP2 (AP-2) family regulates transcription of growth factors and their receptors, organism-specific biosystemTFAP2A and TFAP2C directly stimulate transcription of the estrogen receptor ESR1 gene (McPherson and Weigel 1999). TFAP2A expression correlates with ESR1 expression in breast cancer, and TFAP2C is fr...
    • Transcriptional regulation by the AP-2 (TFAP2) family of transcription factors, organism-specific biosystem (from REACTOME)
      Transcriptional regulation by the AP-2 (TFAP2) family of transcription factors, organism-specific biosystemThe AP-2 (TFAP2) family of transcription factors includes five proteins in mammals: TFAP2A (AP-2 alpha), TFAP2B (AP-2 beta), TFAP2C (AP-2 gamma), TFAP2D (AP-2 delta) and TFAP2E (AP-2 epsilon). The AP...
    • VEGFA-VEGFR2 Pathway, organism-specific biosystem (from REACTOME)
      VEGFA-VEGFR2 Pathway, organism-specific biosystemAngiogenesis is the formation of new blood vessels from preexisting vasculature. One of the most important proangiogenic factors is vascular endothelial growth factor (VEGF). VEGF exerts its biologic...
    • VEGFR2 mediated cell proliferation, organism-specific biosystem (from REACTOME)
      VEGFR2 mediated cell proliferation, organism-specific biosystemVEGFR2 stimulates ERK not via GRB2-SOS-RAS, but via pY1175-dependent phosphorylation of PLC gamma and subsequent activation of PKCs. PKC plays an important mediatory role in the proliferative Ras/Raf...
    Products Interactant Other Gene Complex Source Pubs Description

    Markers

    Homology

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    ATP binding IEA
    Inferred from Electronic Annotation
    more info
     
    Ras guanyl-nucleotide exchange factor activity TAS
    Traceable Author Statement
    more info
     
    cytokine binding IDA
    Inferred from Direct Assay
    more info
    PubMed 
    metal ion binding IEA
    Inferred from Electronic Annotation
    more info
     
    phosphatidylinositol-4,5-bisphosphate 3-kinase activity TAS
    Traceable Author Statement
    more info
     
    protease binding IEA
    Inferred from Electronic Annotation
    more info
     
    protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    protein homodimerization activity IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    protein tyrosine kinase activity TAS
    Traceable Author Statement
    more info
    PubMed 
    signal transducer, downstream of receptor, with protein tyrosine kinase activity IEA
    Inferred from Electronic Annotation
    more info
     
    stem cell factor receptor activity IEA
    Inferred from Electronic Annotation
    more info
     
    transmembrane receptor protein tyrosine kinase activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    Process Evidence Code Pubs
    Fc receptor signaling pathway IDA
    Inferred from Direct Assay
    more info
    PubMed 
    Kit signaling pathway IDA
    Inferred from Direct Assay
    more info
    PubMed 
    MAPK cascade TAS
    Traceable Author Statement
    more info
     
    T cell differentiation ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    actin cytoskeleton reorganization IDA
    Inferred from Direct Assay
    more info
    PubMed 
    activation of MAPK activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    cell chemotaxis IDA
    Inferred from Direct Assay
    more info
    PubMed 
    cellular response to thyroid hormone stimulus IEA
    Inferred from Electronic Annotation
    more info
     
    cytokine-mediated signaling pathway IDA
    Inferred from Direct Assay
    more info
    PubMed 
    dendritic cell cytokine production ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    detection of mechanical stimulus involved in sensory perception of sound ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    digestive tract development ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    ectopic germ cell programmed cell death IEA
    Inferred from Electronic Annotation
    more info
     
    embryonic hemopoiesis ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    epithelial cell proliferation IEA
    Inferred from Electronic Annotation
    more info
     
    erythrocyte differentiation ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    erythropoietin-mediated signaling pathway ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    germ cell migration IEA
    Inferred from Electronic Annotation
    more info
     
    glycosphingolipid metabolic process IEA
    Inferred from Electronic Annotation
    more info
     
    hematopoietic stem cell migration IEA
    Inferred from Electronic Annotation
    more info
     
    hemopoiesis TAS
    Traceable Author Statement
    more info
    PubMed 
    immature B cell differentiation ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    inflammatory response ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    lamellipodium assembly ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    lymphoid progenitor cell differentiation IEA
    Inferred from Electronic Annotation
    more info
     
    male gonad development IEP
    Inferred from Expression Pattern
    more info
    PubMed 
    mast cell chemotaxis IDA
    Inferred from Direct Assay
    more info
    PubMed 
    mast cell cytokine production IDA
    Inferred from Direct Assay
    more info
    PubMed 
    mast cell degranulation IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    mast cell differentiation ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    mast cell differentiation TAS
    Traceable Author Statement
    more info
    PubMed 
    mast cell proliferation TAS
    Traceable Author Statement
    more info
    PubMed 
    megakaryocyte development ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    melanocyte adhesion ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    melanocyte differentiation ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    melanocyte differentiation TAS
    Traceable Author Statement
    more info
    PubMed 
    melanocyte migration ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    myeloid progenitor cell differentiation IEA
    Inferred from Electronic Annotation
    more info
     
    negative regulation of programmed cell death IEA
    Inferred from Electronic Annotation
    more info
     
    ovarian follicle development ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    peptidyl-tyrosine phosphorylation IDA
    Inferred from Direct Assay
    more info
    PubMed 
    phosphatidylinositol phosphorylation IEA
    Inferred from Electronic Annotation
    more info
     
    phosphatidylinositol-mediated signaling TAS
    Traceable Author Statement
    more info
     
    pigmentation ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    positive regulation of GTPase activity IEA
    Inferred from Electronic Annotation
    more info
     
    positive regulation of JAK-STAT cascade IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    positive regulation of MAPK cascade IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    positive regulation of Notch signaling pathway IEA
    Inferred from Electronic Annotation
    more info
     
    positive regulation of cell migration IEA
    Inferred from Electronic Annotation
    more info
     
    positive regulation of cell proliferation IEA
    Inferred from Electronic Annotation
    more info
     
    positive regulation of gene expression IEA
    Inferred from Electronic Annotation
    more info
     
    positive regulation of long-term neuronal synaptic plasticity IEA
    Inferred from Electronic Annotation
    more info
     
    positive regulation of phosphatidylinositol 3-kinase activity TAS
    Traceable Author Statement
    more info
    PubMed 
    positive regulation of phosphatidylinositol 3-kinase signaling TAS
    Traceable Author Statement
    more info
    PubMed 
    positive regulation of phospholipase C activity TAS
    Traceable Author Statement
    more info
    PubMed 
    positive regulation of pseudopodium assembly IEA
    Inferred from Electronic Annotation
    more info
     
    positive regulation of sequence-specific DNA binding transcription factor activity IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    positive regulation of tyrosine phosphorylation of Stat1 protein IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    positive regulation of tyrosine phosphorylation of Stat3 protein IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    positive regulation of tyrosine phosphorylation of Stat5 protein IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    positive regulation of vascular smooth muscle cell differentiation IDA
    Inferred from Direct Assay
    more info
    PubMed 
    protein autophosphorylation IDA
    Inferred from Direct Assay
    more info
    PubMed 
    regulation of cell proliferation TAS
    Traceable Author Statement
    more info
    PubMed 
    regulation of cell shape ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    regulation of developmental pigmentation IEA
    Inferred from Electronic Annotation
    more info
     
    regulation of phosphatidylinositol 3-kinase signaling TAS
    Traceable Author Statement
    more info
     
    signal transduction TAS
    Traceable Author Statement
    more info
    PubMed 
    somatic stem cell division IEA
    Inferred from Electronic Annotation
    more info
     
    somatic stem cell population maintenance IEA
    Inferred from Electronic Annotation
    more info
     
    spermatid development IEA
    Inferred from Electronic Annotation
    more info
     
    spermatogenesis ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    spermatogenesis TAS
    Traceable Author Statement
    more info
    PubMed 
    stem cell differentiation ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    stem cell population maintenance TAS
    Traceable Author Statement
    more info
    PubMed 
    visual learning IEA
    Inferred from Electronic Annotation
    more info
     
    Component Evidence Code Pubs
    acrosomal vesicle IEA
    Inferred from Electronic Annotation
    more info
     
    cell-cell junction IEA
    Inferred from Electronic Annotation
    more info
     
    cytoplasmic side of plasma membrane IEA
    Inferred from Electronic Annotation
    more info
     
    external side of plasma membrane IEA
    Inferred from Electronic Annotation
    more info
     
    extracellular space IDA
    Inferred from Direct Assay
    more info
    PubMed 
    integral component of membrane IEA
    Inferred from Electronic Annotation
    more info
     
    mast cell granule IEA
    Inferred from Electronic Annotation
    more info
     
    plasma membrane TAS
    Traceable Author Statement
    more info
     
    Preferred Names
    mast/stem cell growth factor receptor Kit
    Names
    c-Kit protooncogene
    p145 c-kit
    piebald trait protein
    proto-oncogene c-Kit
    proto-oncogene tyrosine-protein kinase Kit
    soluble KIT variant 1
    tyrosine-protein kinase Kit
    v-kit Hardy-Zuckerman 4 feline sarcoma viral oncogene homolog
    v-kit Hardy-Zuckerman 4 feline sarcoma viral oncogene-like protein
    NP_000213.1
    NP_001087241.1

    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    Genomic

    1. NG_007456.1 RefSeqGene

      Range
      4935..87721
      Download
      GenBank, FASTA, Sequence Viewer (Graphics), LRG_307

    mRNA and Protein(s)

    1. NM_000222.2NP_000213.1  mast/stem cell growth factor receptor Kit isoform 1 precursor

      See identical proteins and their annotated locations for NP_000213.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) represents the longer transcript and encodes the longer isoform (1).
      Source sequence(s)
      BC071593, DC376760, X06182
      Consensus CDS
      CCDS3496.1
      UniProtKB/Swiss-Prot
      P10721
      UniProtKB/TrEMBL
      A0A024RDA0
      Related
      ENSP00000288135, OTTHUMP00000158901, ENST00000288135, OTTHUMT00000250618
      Conserved Domains (6) summary
      cd00096
      Location:426505
      Ig; Immunoglobulin domain
      cd05860
      Location:311411
      Ig4_SCFR; Fourth immunoglobulin (Ig)-like domain of stem cell factor receptor (SCFR)
      smart00410
      Location:220307
      IG_like; Immunoglobulin like
      cd05104
      Location:553928
      PTKc_Kit; Catalytic domain of the Protein Tyrosine Kinase, Kit
      pfam00047
      Location:216305
      ig; Immunoglobulin domain
      pfam07714
      Location:589924
      Pkinase_Tyr; Protein tyrosine kinase
    2. NM_001093772.1NP_001087241.1  mast/stem cell growth factor receptor Kit isoform 2 precursor

      See identical proteins and their annotated locations for NP_001087241.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) uses an alternate in-frame splice site in the central coding region, compared to variant 1, resulting in a shorter protein (isoform 2).
      Source sequence(s)
      BC071593, CN414753, DC376760, X06182
      Consensus CDS
      CCDS47058.1
      UniProtKB/Swiss-Prot
      P10721
      Related
      ENSP00000390987, OTTHUMP00000218587, ENST00000412167, OTTHUMT00000361417
      Conserved Domains (6) summary
      cd00096
      Location:426505
      Ig; Immunoglobulin domain
      cd05860
      Location:311411
      Ig4_SCFR; Fourth immunoglobulin (Ig)-like domain of stem cell factor receptor (SCFR)
      smart00410
      Location:220307
      IG_like; Immunoglobulin like
      cd05104
      Location:549924
      PTKc_Kit; Catalytic domain of the Protein Tyrosine Kinase, Kit
      pfam00047
      Location:216305
      ig; Immunoglobulin domain
      pfam07714
      Location:585920
      Pkinase_Tyr; Protein tyrosine kinase

    RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 108 details...Open this link in a new tab

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh38.p7 Primary Assembly

    Genomic

    1. NC_000004.12 Reference GRCh38.p7 Primary Assembly

      Range
      54657928..54740715
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_005265740.1XP_005265797.1  

      Conserved Domains (6) summary
      cd00096
      Location:427506
      Ig; Immunoglobulin domain
      cd05860
      Location:312412
      Ig4_SCFR; Fourth immunoglobulin (Ig)-like domain of stem cell factor receptor (SCFR)
      smart00410
      Location:220308
      IG_like; Immunoglobulin like
      cd05104
      Location:554929
      PTKc_Kit; Catalytic domain of the Protein Tyrosine Kinase, Kit
      pfam00047
      Location:216306
      ig; Immunoglobulin domain
      pfam07714
      Location:590925
      Pkinase_Tyr; Protein tyrosine kinase
    2. XM_005265741.1XP_005265798.1  

      Conserved Domains (6) summary
      cd00096
      Location:427506
      Ig; Immunoglobulin domain
      cd05860
      Location:312412
      Ig4_SCFR; Fourth immunoglobulin (Ig)-like domain of stem cell factor receptor (SCFR)
      smart00410
      Location:220308
      IG_like; Immunoglobulin like
      cd05104
      Location:554928
      PTKc_Kit; Catalytic domain of the Protein Tyrosine Kinase, Kit
      pfam00047
      Location:216306
      ig; Immunoglobulin domain
      pfam07714
      Location:590924
      Pkinase_Tyr; Protein tyrosine kinase
    3. XM_017008179.1XP_016863668.1  

    4. XM_017008178.1XP_016863667.1  

    5. XM_017008180.1XP_016863669.1  

      UniProtKB/TrEMBL
      A0A0U2N547
      Conserved Domains (6) summary
      cd00096
      Location:426505
      Ig; Immunoglobulin domain
      cd05860
      Location:311411
      Ig4_SCFR; Fourth immunoglobulin (Ig)-like domain of stem cell factor receptor (SCFR)
      smart00410
      Location:220307
      IG_like; Immunoglobulin like
      cd05104
      Location:549923
      PTKc_Kit; Catalytic domain of the Protein Tyrosine Kinase, Kit
      pfam00047
      Location:216305
      ig; Immunoglobulin domain
      pfam07714
      Location:585919
      Pkinase_Tyr; Protein tyrosine kinase
    6. XM_005265742.2XP_005265799.1  

      Conserved Domains (6) summary
      cd00096
      Location:427506
      Ig; Immunoglobulin domain
      cd05860
      Location:312412
      Ig4_SCFR; Fourth immunoglobulin (Ig)-like domain of stem cell factor receptor (SCFR)
      smart00410
      Location:220308
      IG_like; Immunoglobulin like
      cd05104
      Location:550925
      PTKc_Kit; Catalytic domain of the Protein Tyrosine Kinase, Kit
      pfam00047
      Location:216306
      ig; Immunoglobulin domain
      pfam07714
      Location:586921
      Pkinase_Tyr; Protein tyrosine kinase

    Alternate CHM1_1.1

    Genomic

    1. NC_018915.2 Alternate CHM1_1.1

      Range
      55559642..55642426
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
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